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Perlman syndrome

1 OMIM reference -
1 associated gene
32 signs/symptoms

COMMON GENES: 1

5 OMIM references -
4 associated genes
11 signs/symptoms

Perlman syndrome

Nephroblastoma

DIS3L2	(UniProt - OMIM)		DIS3L2	(UniProt - OMIM)
			H19	(OMIM)
			POU6F2	(UniProt - OMIM)
			WT1	(UniProt - OMIM)


COMMON GENES	DIS3L2

Citations in the biomedical literature:

Perlman syndrome		Nephroblastoma
	Synonym(s): - Nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor		Synonym(s): - Renal embryonic tumor - Wilms tumor

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare oncologic disease		Classification (Orphanet): - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Neoplasms -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: childhood Average age of death: any age Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 5 OMIM references - 1 MeSH reference: D009396

Perlman syndrome		Nephroblastoma
	Very frequent - Autosomal recessive inheritance - Broad nasal root - Deepset eyes / enophthalmos - Hepatomegaly / liver enlargement (excluding storage disease) - High forehead - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Macrocephaly / macrocrania / megalocephaly / megacephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Mouth held open - Philtrum flat / large / featureless / absent cupidon bows - Round face - Short / small nose - Tall stature / gigantism / growth acceleration Frequent - Anteverted nares / nostrils - Broad alveolar ridge - Epicanthic folds - Helix thickened / sculpted - High vaulted / narrow palate - Hyperinsulinism / hyperinsulinemia - Low set ears / posteriorly rotated ears - Micropenis / small penis / agenesis - Nephroblastoma / Wilms tumor - Polyhydramnios - Structural anomalies of the pancreas - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Dolichocephaly / scaphocephaly - Inguinal / inguinoscrotal / crural hernia - Ptosis - Seizures / epilepsy / absences / spasms / status epilepticus - Simian crease / transverse / unique palmar crease		Very frequent - Acute abdominal pain / colic - Kidney / renal neoplasm / tumor / carcinoma / cancer - Neoplasms / tumors Occasional - Aniridia / iris hypoplasia - Chronic arterial hypertension - Fever / chilling - Hematuria / microhematuria - Hepatic / liver neoplasm / tumor / carcinoma / cancer - Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer - Lymphadenopathy / polyadenopathies - Weight loss / loss of appetite / break in weight curve / general health alteration